SERPINA1 (serpin family A member 1)

2007-02-01  

Identity

HGNC
SERPINA1
LOCATION
14q32.13
LOCUSID
5265
ALIAS
A1A,A1AT,AAT,PI,PI1,PRO2275,alpha1AT,nNIF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5265
MIM: 107400
HGNC: 8941
Ensembl: ENSG00000197249

Variants:

dbSNP: 5265
ClinVar: 5265
TCGA: ENSG00000197249
COSMIC: SERPINA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197249ENST00000355814P01009
ENSG00000197249ENST00000355814E9KL23
ENSG00000197249ENST00000393087P01009
ENSG00000197249ENST00000393087E9KL23
ENSG00000197249ENST00000393088P01009
ENSG00000197249ENST00000393088E9KL23
ENSG00000197249ENST00000402629P01009
ENSG00000197249ENST00000404814P01009
ENSG00000197249ENST00000404814E9KL23
ENSG00000197249ENST00000437397P01009
ENSG00000197249ENST00000437397E9KL23
ENSG00000197249ENST00000440909P01009
ENSG00000197249ENST00000440909E9KL23
ENSG00000197249ENST00000448921P01009
ENSG00000197249ENST00000448921E9KL23
ENSG00000197249ENST00000449399P01009
ENSG00000197249ENST00000449399E9KL23
ENSG00000197249ENST00000489769P01009
ENSG00000197249ENST00000553327G3V5R8
ENSG00000197249ENST00000554720G3V2B9
ENSG00000197249ENST00000556091G3V544
ENSG00000197249ENST00000556955G3V387
ENSG00000197249ENST00000557118G3V4I7
ENSG00000197249ENST00000557492A0A0B4J278
ENSG00000197249ENST00000636712P01009
ENSG00000197249ENST00000636712E9KL23

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
346749782024Association of the methionine sulfoxide reductase A rs10903323 gene polymorphism with functional activity and oxidative modification of alpha-1-antitrypsin in COPD patients.0
370214712024Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.2
376251512024Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.0
377166162024Alpha-1 Antitrypsin Augmentation and the Liver Phenotype of Adults With Alpha-1 Antitrypsin Deficiency (Genotype Pi∗ZZ).0
377836422024Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes.0
379933482024Alpha-1 antitrypsin deficiency.0
380096162024Danish children with ZZ-homozygous alpha-1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity.0
381089762024Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.0
382388462024Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning.1
382858902024Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.1
383337752024Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT.0
383884922024Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.0
383966912024Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.0
385151382024Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools.0
385153332024Alpha1-antitrypsin impacts innate host-pathogen interactions with Candida albicans by stimulating fungal filamentation.0

Citation

Dessen P

SERPINA1 (serpin family A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46442